Canonical Allele Identifier: CA477218082

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393351C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522642C>T , CM000673.2:g.121522642C>T	GRCh38
NC_000011.9:g.121393351C>T , CM000673.1:g.121393351C>T	GRCh37
NC_000011.8:g.120898561C>T	NCBI36
NG_023313.1:g.75391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1461C>T MANE Select	ENSP00000260197.6:p.Leu487=
ENST00000260197.11:c.1461C>T	ENSP00000260197.6:p.Leu487=
ENST00000532451.1:n.1413C>T
NM_003105.5:c.1461C>T	NP_003096.1:p.Leu487=
XM_011542963.1:c.1461C>T	XP_011541265.1:p.Leu487=
XM_011542964.1:c.1461C>T	XP_011541266.1:p.Leu487=
XM_011542965.1:c.-162C>T	XP_011541267.1:n.-162C>T
XM_011542963.3:c.1461C>T	XP_011541265.1:p.Leu487=
XM_011542965.3:c.-162C>T	XP_011541267.1:n.-162C>T
XM_017018169.2:c.1149C>T	XP_016873658.1:p.Leu383=
XM_017018170.2:c.936C>T	XP_016873659.1:p.Leu312=
XM_017018171.1:c.1461C>T	XP_016873660.1:p.Leu487=
NM_003105.6:c.1461C>T MANE Select	NP_003096.2:p.Leu487=